| DIAGNOSI
DI EMOFILIA |
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| Who is the hemophilia carrier? |
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The carrier of hemophilia A or B
is a woman that possesses, in one of the two chromosomes
X, an alteration of the gene FVIII or FIX. The alteration,
that is the cause of the hemophilia, can be transmitted
to the son, in case he received from the mother the chromosome
X carrying the altered gene.
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| Molecular diagnosis of the carrier |
| Before the advent of the modern technologies
(1970s) it was possible to diagnostic the carrier only by
measuring the gravity of the factor's deficiency in plasma.
In the 1980s, the advancement of molecular biology allowed
to characterize the genes FVIII and FIX, thus creating new,
more accurate diagnostic methods that permit to study the
patient's DNA. |
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| The prenatal diagnosis |
The aim of prenatal diagnosis is
to offer to the parents the opportunity to know with anticipation
(I/III months of pregnancy) if the fetus is affected by
hemophilia.
Actually, with the development of the latest molecular biology
technologies is it possible to perform prenatal diagnosis
directly on the fetal DNA through a sample of chorionic
villus or through amniocentesis. With these techniques it
is possible to know both the fetus's sex and the karyotype,
and thus rule out the possibility of chromosomal anomalies.
In the case of a male fetus a molecular diagnosis is carried
out, through which it is possible to check if the fetus
has received from the mother the X chromosome who carried
the altered FVIII/FIX genes.
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(file Pdf)